Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population by Giovanni Bisello, Mariarita Bertoldi

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Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants by Ida Cursio, Sabrina Siliquini, Claudia Carducci, Giovanni Bisello, Mario Mastrangelo, Vincenzo Leuzzi, Mariarita Bertoldi, Carla Marini

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An attenuated, adult case of AADC deficiency demonstrated by protein characterization by Giovanni Bisello, Christiaan G.J. Saris, Rossella Franchini, Marcel M. Verbeek, Michel A.A.P. Willemsen, Massimiliano Perduca, Mariarita Bertoldi

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Tyrosine Phosphorylation Modulates Peroxiredoxin-2 Activity in Normal and Diseased Red Cells by Alessandro Mattè, Enrica Federti, Elena Tibaldi, Maria Luisa Di Paolo, Giovanni Bisello, Mariarita Bertoldi, Andrea Carpentieri, Pietro Pucci, Iana Iatcencko, Anand B. Wilson, Veronica Riccardi, Angela Siciliano, Francesco Turrini, Dae Won Kim, Soo Young Choi, Anna Maria Brunati, Lucia De Franceschi

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